TAS2R30 c.358C>T ;(p.R120C)

Variant ID: 12-11286486-G-A

NM_001097643.1(TAS2R30):c.358C>T;(p.R120C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics
Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS
Publication Date: 2019

Variant appearance in text: TAS2R30: R120C; rs111498087
PubMed Link: 31681433
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 10
View BVdb publication page



A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Plos Computational Biology
Chen, Yun-Ching YC; Douville, Christopher C; Wang, Cheng C; Niknafs, Noushin N; Yeo, Grace G; Beleva-Guthrie, Violeta V; Carter, Hannah H; Stenson, Peter D PD; Cooper, David N DN; Li, Biao B; Mooney, Sean S; Karchin, Rachel R
Publication Date: 2014-09

Variant appearance in text: TAS2R30: R120C
PubMed Link: 25188385
Variant Present in the following documents:
  • pcbi.1003825.s014.xlsx, sheet 1
View BVdb publication page